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Items: 1 to 20 of 313

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7093157complex substitution1nstd102humanUncertain significance GRCh37.p13 chrX: 103,118,514-103,313,590 , GRCh38 chrX: 103,734,669-104,059,025 , GRCh37.p13 chrX|NW_004070885.1: 1-195,441 PLP1, RAB9B, 13 more genes
    nsv7090650copy number variation1nstd229human GRCh38 chrX: 103,778,715-103,993,486 , GRCh37.p13 chrX: 103,118,514-103,248,054 , GRCh37.p13 chrX|NW_004070885.1: 1-129,902 TMSB15B, H2BW4P, 9 more genes
    nsv7052621inversion1nstd229human GRCh38 chrX: 103,826,879-110,334,422 , GRCh37.p13 chrX: 103,081,809-109,577,650 CSGALNACT2P2, LOC107985662, 82 more genes
    nsv6636543copy number variation1nstd102humanPathogenic GRCh37 chrX: 93,805,850-118,913,329 , GRCh38.p12 chrX: 94,550,851-119,779,366 TRPC5OS, LOC105373314, 351 more genes
    nsv6636471copy number variation1nstd102humanPathogenic GRCh37 chrX: 103,017,429-103,236,332 , GRCh38.p12 chrX: 103,762,501-103,981,754 DPPA3P1, TMSB15B-AS1, 9 more genes
    nsv6634623copy number variation1nstd102humanPathogenic GRCh38 chrX: 103,776,506-104,817,980 , GRCh37.p13 chrX: 103,031,434-104,062,660 SLC25A53P1, ELF2P1, 22 more genes
    nsv6634595copy number variation1nstd102humanPathogenic GRCh38 chrX: 103,477,300-104,817,980 , GRCh37.p13 chrX: 102,732,228-104,062,660 TMSB15B, MORF4L2-AS1, 33 more genes
    nsv6634329copy number variation1nstd102humanPathogenic GRCh37 chrX: 76,794,355-119,282,836 , GRCh38.p12 chrX: 77,538,874-120,148,930 NXF4, RHOXF1P1, 489 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6315429copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,670,699-155,233,731 , GRCh38.p12 chrX: 78,415,202-156,004,066 H2AB1, GPR174, 1081 more genes
    nsv6315393copy number variation1nstd102humanPathogenic GRCh37 chrX: 61,545-155,226,048 , GRCh38.p12 chrX: 11,545-155,996,383 H2BP8, LOC101060199, 2151 more genes
    nsv6315389copy number variation1nstd102humanPathogenic GRCh37 chrX: 11,522,765-155,233,731 , GRCh38.p12 chrX: 11,504,645-156,004,066 RBMX, LOC100129144, 2042 more genes
    nsv6315332copy number variation1nstd102humanPathogenic GRCh37 chrX: 62,685,885-155,233,731 , GRCh38.p12 chrX: 63,466,005-156,004,066 MAGT1, TAFAZZIN, 1337 more genes
    nsv6315331copy number variation4nstd102humanPathogenic GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 PLAC1, PGK1P1, 2154 more genes
    nsv6313301copy number variation1nstd102humanPathogenic GRCh37 chrX: 101,982,475-116,885,339 , GRCh38.p12 chrX: 102,727,547-117,751,376 TMSB15B, GLUD1P9, 207 more genes
    nsv6312957copy number variation1nstd102humanPathogenic GRCh37 chrX: 102,582,446-103,203,574 , GRCh38.p12 chrX: 103,327,518-103,949,000 TMEM31, TMSB15B-AS1, 20 more genes
    nsv6137666copy number variation1nstd102humanPathogenic GRCh37 chrX: 91,829,757-113,050,225 , GRCh38.p12 chrX: 92,574,758-113,806,943 TCEAL8, MTND5P26, 272 more genes
    nsv6137629copy number variation1nstd213human GRCh37 chrX: 66,030,000-152,230,001 , GRCh38.p12 chrX: 66,810,158-153,061,271 ABCB7, AGTR2, 1162 more genes
    nsv6137409copy number variation1nstd213human GRCh37 chrX: 73,710,000-151,990,001 , GRCh38.p12 chrX: 74,490,165-152,821,457 ABCB7, AGTR2, 991 more genes
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